copy number variation in intron 1 of sox5 causes the pea-comb phenotype in chickens拷贝数变异的基因内区1 sox5引起鸡的pea-comb表型.pdfVIP

Copy Number Variation in Intron 1 of SOX5 Causes the Pea-comb Phenotype in Chickens 1¤ 2 1 3 4 Dominic Wright , Henrik Boije , Jennifer R. S. Meadows , Bertrand Bed’hom , David Gourichon , 3 ` 3 5 1 ¨ ¨ 2 Agathe Vieaud , Michele Tixier-Boichard , Carl-Johan Rubin , Freyja Imsland , Finn Hallbook , Leif Andersson1,6* 1 Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden, 2 Department of Neuroscience, Uppsala University, Uppsala, Sweden, 3 INRA, AgroParisTech, UMR1313 Animal Genetics and Integrative Biology, Jouy-en-Josas, France, 4 INRA, UE1295 PEAT, Nouzilly, France, 5 Department of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden, 6 Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden Abstract Pea-comb is a dominant mutation in chickens that drastically reduces the size of the comb and wattles. It is an adaptive trait in cold climates as it reduces heat loss and makes the chicken less susceptible to frost lesions. Here we report that Pea-comb is caused by a massive amplification of a duplicated sequence located near evolutionary conserved non-coding sequences in intron 1 of the gene encoding the SOX5 transcription factor. This must be the causative mutation since all other polymorphisms associated with the Pea-comb allele were excluded by genetic analysis. SOX5 controls cell fate and differentiation and is essential for skeletal development, chondrocyte differentiation, and extracellular matrix production. Immunostaining